A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

Kager, Leo; Jimenez-Heredia, Raúl; Zeitlhofer, Petra; Novak, Wolfgang; Eder, Sebastian K; Segarra-Roca, Anna; Frohne, Alexandra; Nebral, Karin; Haimel, Matthias; Geyeregger, René; Roetzer-Londgin, Katharina; Haas, Oskar A; Boztug, Kaan.

Afiliação

Kager L; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.
Jimenez-Heredia R; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.
Zeitlhofer P; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.
Novak W; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.
Eder SK; Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria.
Segarra-Roca A; Labdia Labordiagnostik Vienna Austria.
Frohne A; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.
Nebral K; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.
Haimel M; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.
Geyeregger R; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.
Roetzer-Londgin K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.
Haas OA; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.
Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.

Hemasphere ; 8(1): e31, 2024 Jan.

Article em En | MEDLINE | ID: mdl-38434532

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article